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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA1373641529
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.70414146_70414147delinsTG , CM000665.2:g.70414146_70414147delinsTG
GRCh38
NC_000003.11:g.70463297_70463298delinsTG , CM000665.1:g.70463297_70463298delinsTG
GRCh37
NC_000003.10:g.70545987_70545988delinsTG
NCBI36
Search 100 bp 5'
Search 100 bp 3'